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| created at |
2024-09-23 16:23:50 UTC |
| updated at |
2024-09-23 18:22:39 UTC |
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Terms for rare diseases as defined in ORDO.
The entries were initially sourced from the ORDO version 2024-07-03 as stored in BioPortal.
Namespace: http://www.orpha.net/ORDO/
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20,514 entries
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There is 0 pattern entry.
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Pyridoxamine 5'-phosphate oxidase deficiency
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Orphanet_79096 |
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PPARG-related familial partial lipodystrophy
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Orphanet_79083 |
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AKT2-related familial partial lipodystrophy
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Orphanet_79085 |
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Infantile juvenile polyposis syndrome
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Orphanet_79076 |
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Pyridoxal phosphate-dependent seizures
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Orphanet_79096 |
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Pyridoxal phosphate-responsive seizures
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Orphanet_79096 |
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Folinic acid-responsive seizures
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Orphanet_79097 |
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Ackerman dermatitis syndrome
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Orphanet_79099 |
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